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Article

A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia.

BioMed research international - 1 Jan 2021

Guo Bing-Bing, Jin Jie-Yuan, Yuan Zhuang-Zhuang, Zeng Lei, Xiang Rong

Abstract excerpt

Pseudoachondroplasia (PSACH) is an autosomal dominant skeletal dysplasia with an estimated incidence of ~1/60000 that is characterized by disproportionate short stature, brachydactyly, joint laxity, and early-onset osteoarthritis. COMP encodes the cartilage oligomeric matrix protein, which is expressed predominantly in the extracellular matrix (ECM) surrounding the cells that make up cartilage, ligaments, and...

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Source

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Identifiers

PMID: 33748277
DOI: 10.1155/2021/6678531
PMCID: PMC7960025

Genes

COMP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia.PMID 33748277Read ↗

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A novel COMP mutation in a pseudoachondroplasia family of Chinese origin.Semantic proximity Read ↗

A novel COMP mutation in a Chinese patient with pseudoachondroplasia.Semantic proximity Read ↗

Functional characterization of a rare pathogenic variant c.875G > A, p.(Cys292Tyr) in COMP.Semantic proximity Read ↗

Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia -- multiple epiphyseal dysplasia disease group.Semantic proximity Read ↗

Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.Semantic proximity Read ↗

Genotype-phenotype correlations in PSACH/EDM1 patients with COMP gene variants: a comprehensive review of 830 cases.Semantic proximity Read ↗

Identification of novel and recurrent mutations in the calcium binding type III repeats of cartilage oligomeric matrix protein in patients with pseudoachondroplasia.Semantic proximity Read ↗

Decreased Plasma COMP and Increased Plasma CTX-II Levels in a Chinese Pseudoachondroplasia Family with Novel COMP Mutation.Semantic proximity Read ↗

Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.Semantic proximity Read ↗

A novel mutation of the COMP gene in a Thai family with pseudoachondroplasia.Semantic proximity Read ↗

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